1wlx
From Proteopedia
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{{STRUCTURE_1wlx| PDB=1wlx | SCENE= }} | {{STRUCTURE_1wlx| PDB=1wlx | SCENE= }} | ||
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===Solution structure of the third spectrin repeat of alpha-actinin-4=== | ===Solution structure of the third spectrin repeat of alpha-actinin-4=== | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/ACTN4_HUMAN ACTN4_HUMAN]] Defects in ACTN4 are the cause of focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:[http://omim.org/entry/603278 603278]]. A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.<ref>PMID:10700177</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/ACTN4_HUMAN ACTN4_HUMAN]] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. | ||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Actinin|Actinin]] | *[[Actinin|Actinin]] | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Booker, G W.]] | [[Category: Booker, G W.]] | ||
Revision as of 19:11, 24 March 2013
Contents |
Solution structure of the third spectrin repeat of alpha-actinin-4
Disease
[ACTN4_HUMAN] Defects in ACTN4 are the cause of focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]. A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.[1]
Function
[ACTN4_HUMAN] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation.
About this Structure
1wlx is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See Also
Reference
- ↑ Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 2000 Mar;24(3):251-6. PMID:10700177 doi:10.1038/73456
